A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010141



Internal ID19099360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239190728..239265631hg38UCSC Ensembl
Innerchr2:240112424..240187327hg19UCSC Ensembl
Innerchr2:239777361..239852264hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3874904
hg1974904
hg1874904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729382
Samples
Known GenesHDAC4, MGC16025
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010141
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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